{"id":"W3109555147","doi":"10.1093/hmg/ddaa258","title":"Heterozygous loss of <i>WBP11</i> function causes multiple congenital defects in humans and mice","year":2020,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Human Genome Research Institute; National Health and Medical Research Council; New South Wales Government; National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Agence Nationale de la Recherche; Baylor-Hopkins Center for Mendelian Genomics","keywords":"Biology; Null allele; Haploinsufficiency; Loss function; Heterozygote advantage; Genetics; Missense mutation; Allele; Mutation; Gene; Phenotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0000438746,0.0001405037,0.0001396349,0.00003432867,0.00004913592,0.0000176236,0.0001161274,0.0001062756,0.00000889158],"category_scores_gemma":[0.00002301787,0.0001582323,0.00005885864,0.00008103148,0.0001104671,0.000002795726,0.00008168699,0.00007258155,0.000002679157],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007203907,"about_ca_system_score_gemma":0.00002735983,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002365936,"about_ca_topic_score_gemma":0.0001533043,"domain_scores_codex":[0.9991304,0.00004867874,0.0002222954,0.0003305787,0.0001036102,0.0001644082],"domain_scores_gemma":[0.9995391,0.000005099094,0.00007569693,0.0002317476,0.0000670309,0.0000812941],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00004176707,0.00004248867,0.02295719,0.00003022895,0.0000346754,0.00000878053,0.0001090501,0.000435965,0.975918,0.000085527,0.00008574801,0.0002505678],"study_design_scores_gemma":[0.001954355,0.0009993021,0.116738,0.0000171151,0.00008656715,0.000009572336,0.000159482,0.0002360586,0.8728694,0.0001492095,0.006354075,0.0004268297],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927402,0.003941277,0.002833816,0.00003505036,0.00003514491,0.0001919448,0.00002190743,0.000008063629,0.0001925599],"genre_scores_gemma":[0.9988747,0.0002565405,0.0002486097,0.0004143272,0.00006263747,0.00002027973,0.00007013099,0.00002777956,0.00002499622],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1030486,"threshold_uncertainty_score":0.6452527,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01649195665591199,"score_gpt":0.2417318721964859,"score_spread":0.2252399155405739,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}